Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Col7a1tm1Uit
Name:	collagen, type VII, alpha 1; targeted mutation 1, Jouni Uitto
MGI ID:	MGI:2154650
Synonyms:	COL7m-
Gene:	Col7a1  Location: Chr9:108782654-108813943 bp, + strand  Genetic Position: Chr9, 59.63 cM
Alliance:	Col7a1tm1Uit page

Germline Transmission:	Earliest citation of germline transmission: J:58533
Parent Cell Line:	W9.5/W95 (ES Cell)
Strain of Origin:	129S1/Sv-Oca2+ Tyr+ Kitl+

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: A neomycin resistance cassette replaced a 5kb genomic fragment containing exons 46 to 69. These exons encode the central collagenous domain 1. (J:58533)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

1 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Col7a1 Mutation:	106 strains or lines available

Original:	J:58533 Heinonen S, et al., Targeted inactivation of the type VII collagen gene (Col7a1) in mice results in severe blistering phenotype: a model for recessive dystrophic epidermolysis bullosa. J Cell Sci. 1999 Nov;112(Pt 21):3641-8
All:	11 reference(s)